Genetic Tests for AMD

We are pleased to announce the presentation of a fully funded IRB-approved study: A Comparison of Two Commercially Available Genetic Tests for Age-Related Macular Degeneration at the Macula Society Annual Meeting in Southern California. The Macula Society is an international scientific society dedicated to research on age-related macular degeneration.

Lifelong Vision Foundation funded a Study by Nancy M. Holekamp, M.D., Arghavan Almony, M.D. and Mathew W. MacCumber, M.D., Ph. D., comparing the two commercially available genetic tests for Age-Related Macular Degeneration. Both tests were performed on a total of 103 patients at three sites: Pepose Vision Institute in St. Louis, MO, Rush Medical Center in Chicago, IL and University of Missouri in Columbia, MO.

Two commercially available genetic tests that identify alleles (allele is an alternative form of a gene – one member of a pair – that is located at a specific position on a specific chromosome) associated with AMD were performed on each patient. Macula Risk (Arctix Dx, Toronto) and RetnaGene (Sequenom CMM, San Diego). Out of 103 patients, the risk calculations for advanced AMD resulting from the two tests were discordant 61 times. In all but one of the discordant cases, the RetnaGene results predicted higher risk than Macula Risk. The CFH haplotype (haplotype is a group of genes that is inherited together by an organism from a single parent) identification between the two tests was discordant 62 times. Macula Risk never produced H3, a moderate risk allele, and appeared to mis-identify it as H4, a protective allele. H3 should have been detected in 34% of patients. This flaw in the Macula Risk test was due to a technical scientific error that had gone undisclosed prior to this pivotal study.

“We are excited to provide full funding for scientific studies such as this, as they hold companies accountable for producing valid and accurate tests. The results of this study have vast implications for vision protocols as well as economic impact,” said Marilyn Spirt, Executive Director of Lifelong Vision Foundation.